Roche NimbleGen, a company of Roche Applied Science announced the commercial launch of its NimbleGen Sequence Capture technology for scientists interested in selecting targeted regions of the genome for high-throughput sequencing. This new technology enables researchers to easily and rapidly capture up to five million targeted bases from the human or mouse genomes.

The technology addresses a major bottleneck faced by researchers when trying to sequence large or multiple genomic regions. The bottleneck lies in the sample preparation process, where researchers want to sample only a small, relevant portion of a genome and sequence using next-generation technologies such as Roche’s 454 Genome Sequencer FLX system. The length of the captured sample fragments, coupled with the long-read technology of the 454 Sequencing system, enables haplotyping and provides full information on variants, such as insertions, deletions, and SNPs. Currently, regions of interest are selectively sampled through a labor-intensive process whereby individual fragments are individually amplified using polymerase chain reaction (PCR). Since a unique reaction is required for each fragment, the selection of large genomic regions requires the parallel design, optimization and execution of up to thousands of individual reactions, representing a substantial investment in time and money.

The NimbleGen Sequence Capture service is the first commercially available solution that specifically addresses this sample preparation bottleneck. This technology offers maximum flexibility with custom tailored designs targeting either contiguous or dispersed genomic regions, and saves substantial time and cost when compared to PCR-based methods.

Researchers around the world have awaited the availability of this revolutionary technology with great excitement. “What's happening today with regard to Sequence Capture is reminiscent of the early days of PCR, the same sense that all of a sudden your field has changed, and all that constrains you is your imagination about how you should now be designing experiments,” said John Greally, Ph.D., Associate Professor in the Departments of Medicine and Molecular Genetics at Albert Einstein College of Medicine. “Occasionally a technical advance lives up to its billing as transformative. This seems to be one of those occasions.”

The initial offering of this technology is as a service, and Roche NimbleGen plans to make NimbleGen Sequence Capture arrays and related reagents and instruments available soon to customers worldwide so that the technology can be used in every researcher’s laboratory. Indeed several early access customers have already started using NimbleGen Sequence Capture arrays in high-profile genome sequencing projects to facilitate the analysis of thousands of human DNA samples to determine the genetic variations associated with a range of human diseases.

Baylor’s Human Genome Sequencing Center, which last month presented NimbleGen Sequence Capture data at the Advances in Genome Biology and Technology conference, plans to employ NimbleGen Sequence Capture technology to target all human coding regions for several projects, including The Cancer Genomes Atlas (TCGA) project and the 1000 Genomes Project. TCGA is a joint program between the National Cancer Institute and the National Human Genome Research Institute to identify and understand the genetic variation involved in human cancer, with the end goal of improving the ability to diagnose, treat and prevent cancer. The 1000 Genomes Project is an international research consortium with the goal of sequencing at least one thousand people from around the world in an effort to catalog biomedically relevant DNA variations in the human genome.

“We are extremely pleased with the capabilities and efficiencies the NimbleGen Sequence Capture technology has brought to our sequencing research efforts. There are huge advantages when this technology is compared to PCR-based methods,” said Richard Gibbs, Ph.D., Director of Human Genome Sequencing Center at Baylor College of Medicine. “This is the most exciting next phase in bringing genetic discovery to medicine.” Request Info